Genetic screening for Peutz–Jeghers syndrome

Abstract

Peutz–Jeghers syndrome is clinically characterized by mucocutaneous melanocytic pigmentation, intestinal hamartomatous polyposis and a significantly increased risk of developing cancer. Mutations in the serine/threonine kinase (STK-)11 gene, also designated LKB1, are found in approximately 60% of cases of Peutz–Jeghers syndrome. There is evidence that genetic heterogeneity exists and gene(s) that have not yet been discovered may be responsible for the disease. Since most mutations in Peutz–Jeghers syndrome are null alleles and are dispersed throughout the entire STK11/LKB1 gene, the mutation screening strategies that combine approaches at both the DNA and RNA level are favored. Based upon the identification of novel mutational mechanisms, the impact of RNA-based screening for germinal STK11/LKB1 mutations in Peutz–Jeghers syndrome are specifically discussed.

• gene regulation
• germline
• heterogeneity
• intestinal hamartomatous polyposismutation
• nonsense-mediated mRNA decay
• Peutz–Jeghers syndrome
• protein invitrosynthesis
• screening
• STK11
• tumor predisposing syndrome